Spondyloepiphyseal dysplasia congenita
ORPHA:94068DiseaseAutosomal dominantAntenatal, Neonatal
Ассоциированные гены1
Фенотипы (HPO)42
Очень частый (80–99%)6
HP:0001510Growth delay
HP:0002650Scoliosis
HP:0002938Lumbar hyperlordosis
HP:0003521Disproportionate short-trunk short stature
HP:0010575Dysplasia of the femoral head
HP:0045060Aplasia/hypoplasia involving bones of the extremities
Частый (30–79%)12
HP:0000280Coarse facial features
HP:0000470Short neck
HP:0000926Platyspondyly
HP:0000939Osteoporosis
HP:0002808Kyphosis
HP:0002857Genu valgum
HP:0003180Flat acetabular roof
HP:0009824Upper limb undergrowth
HP:0012368Flat face
HP:0030838Hip pain
HP:0040194Increased head circumference
HP:0100569Abnormally ossified vertebrae
Периодический (5–29%)24
HP:0000162Glossoptosis
HP:0000175Cleft palate
HP:0000316Hypertelorism
HP:0000347Micrognathia
HP:0000365Hearing impairment
HP:0000541Retinal detachment
HP:0000545Myopia
HP:0001270Motor delay
HP:0001552Barrel-shaped chest
HP:0001760Abnormal foot morphology
HP:0002176Spinal cord compression
HP:0002515Waddling gait
HP:0002795Abnormal respiratory system physiology
HP:0002996Limited elbow movement
HP:0003026Short long bone
HP:0003097Short femur
HP:0003306Spinal rigidity
HP:0003418Back pain
HP:0004349Reduced bone mineral density
HP:0008462Cervical instability
HP:0008755Laryngotracheomalacia
HP:0010585Small epiphyses
HP:0030839Knee pain
HP:0100864Short femoral neck
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 1 | Europe | Value and class |
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)